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FRANCE

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE

Accreditation
Diagnosis of non syndromic genetic deafness (GJB2 and GJB6 genes)
Laboratoire Cerba
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Accreditation
Diagnosis of genetic nonsyndromic deafness: search for mutations of GJB2, GJB3 and GJB6 genes
CHU de Bordeaux-GH Pellegrin
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques, Array based techniques

FRANCE

OCCITANIE
TOULOUSE

Accreditation
Diagnosis recessive nonsyndromic sensorineural deafness DFNB (GJB2, GJB6, SLC26A4 genes)
CHU de Toulouse - Hôpital Purpan
Purpose(s) : Post-natal diagnosis, Newborn screening
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing, PCR based techniques

FRANCE

BRETAGNE
BREST

Accreditation
Diagnosis of non syndromic deafness (GJB2, GJB6 genes)
CHU de Brest - Hôpital de la Cavale Blanche
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, PCR based techniques

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation
'Diagnosis of nonsyndromic deafness DNFB type (GJB2 and OTOF gene mutations; GJB6 gene deletions)'
CHU de Marseille - Hôpital de la Timone
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing, PCR based techniques

ITALY

TOSCANA
FIRENZE

Accreditation
Molecular diagnosis of isolated deafness (CX26, CX30, OTOF genes)
Azienda Ospedaliero Universitaria Careggi
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Nordrhein-Westfalen
BOCHUM

Accreditation
Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Ruhr-Universität Bochum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Niedersachsen
GÖTTINGEN

Accreditation
Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Institut für Humangenetik der Universität Göttingen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
NEU-ULM

Accreditation
Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
genetikum - Zweigniederlassung Neu-Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

AUSTRIA

TIROL
INNSBRUCK

Accreditation
Diagnosis of autosomal deafness (COCH, GJB2, GJB3, GJB6, KCNQ4, SLC26A4 gene)
Medizinische Universität Innsbruck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

SWITZERLAND

Suisse Romande
GENČVE

Accreditation
Diagnosis of deafness nonsyndromic (GJB2, GJB6 genes)
Hôpitaux Universitaires de Genčve HUG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Methylation analysis
Technique(s) : Sanger sequencing, MLPA based techniques

FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation
Diagnosis of autosomal nonsyndromic sensorineural deafness (GJB2, GJB6 genes)
CHU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, PCR based techniques

BELGIUM

LIEGE
LIEGE

Accreditation
Diagnosis of autosomal recessive non-syndromic sensorineural deafness type DFNB (GjB2 and GjB6 genes)
CHU de Ličge - UniLab Lg
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, PCR based techniques

GERMANY

Schleswig-Holstein
KIEL

Accreditation
Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Diagnosis of autosomal recessive non-syndromic sensorineural deafness type DFNB (GjB2, GjB6, OTOA, STRC genes)
Erasme Hospital - ULB
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques

GERMANY

Sachsen
DRESDEN

Accreditation
Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ESTONIA

Tartu
TARTU

Accreditation
Molecular diagnosis of deafness nonsyndromic sensorineural (GJB2, GJB3, GJB6, GJA1, SLC26A4, and SLC26A5 genes)
Tartu University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques

UNITED KINGDOM

Tayside
DUNDEE

Accreditation
Molecular diagnosis of Non-syndromic Deafness (GJB2 & GJB6 genes)
Ninewells Hospital and Medical School
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Molecular diagnosis of deafness, sensorineural, type 1 (Connexin 26 and 30)
Erasme Hospital - ULB
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

HAINAUT
GOSSELIES

Accreditation
Diagnosis of autosomal non-syndromic sensorineural deafness (GJB2 and GJB6 genes)
Institut de Pathologie et de Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, PCR based techniques

BELGIUM

OOST-VLAANDEREN
GENT

Accreditation
Diagnosis of autosomal recessive non-syndromic sensorineural deafness type DFNB (GJB2 & GJB6 genes)
Center for Medical Genetics Gent
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), PCR based techniques

SWITZERLAND

Suisse Alémanique
BERN

Accreditation
Diagnosis of Non syndromic hearing loss and deafness DFNA9 (COCH, GJB2 and GJB6 genes)
University Hospital Inselspital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Autosomal Dominant Deafness type 1, 2, 2B, 3, 3B, 6, 8, 9, 10, 11, 12, 13, 14, 15, 17, 20, 22, 26, 28, 36 and 69 (DIAPH1, KCNQ4, GJB3, GJB2, GJB6, WFS1, TECTA, COCH, EYA4, MYO7A, COL11A2, POU4F3, MYH9, ACTG1, MYO6, GRHL2, TMC1 and KITLG gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Diagnosis of Autosomal Recessive Deafness (GJB2, GJB6, MYO7A, MYO15A, SLC26A4, TMC1, TMPRSS3, OTOF, CDH23, GIPC3, STRC, USH1C, OTOG, TECTA, OTOA, PCDH15, RDX, GRXCR1, TRIOBP, CLDN14, MYO3A, ESRRB, MYO6, HGF, ILDR1, DFNB59, SLC26A5, LOXHD1, TPRN, PTPRQ, OTOGL, KARS, CABP2 and CLIC5 gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Diagnosis of sensorineural deafness (GJB2, GJB3, GJB6, MYH9, SLC26A4 genes)
Synlab MVZ Freiburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation
'Molecular diagnosis of Autosomal Recessive Neurosensory Deafness (DFNB1, GJB2 and GJB6 genes; mitochondrial m.1555A>G analysis)'
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, PCR based techniques

GERMANY

Bayern
MARTINSRIED

Accreditation
Diagnosis of sensorineural deafness (GJB2, GJB6, MYH9, MYO7A, SIX1, SLC26A4 genes)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
ULM

Accreditation
Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Universitätsklinikum Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Rheinland-Pfalz
MAINZ

Accreditation
Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Universitätsmedizin Mainz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Diagnosis of sensorineural deafness (GJB2 and GJB6 genes: sequencing, MLPA)
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation
Molecular diagnosis of Clouston sydrome (GJB6 gene: Molecular diagnosis through sequencing analysis)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Hessen
FRANKFURT AM MAIN

Accreditation
Diagnosis of sensorineural deafness (GJB1, GJB2, GJB3, GJB4 and GJB6 genes: sequencing, MLPA)
bio.logis Zentrum für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Hamburg
HAMBURG

Accreditation
Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation
Diagnosis of autosomal recessive non-syndromic sensorineural deafness type DFNB (GjB2, GjB6 and SLC26A4 genes)
Centrum Medische Genetica - UZA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Diagnosis of autosomal dominant non-syndromic sensorineural deafness (GJB2 and GJB6 genes)
Cliniques Universitaires UCL Saint-Luc
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, PCR based techniques

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Diagnosis of autosomal dominant non syndromic sensorineural deafness (ACTG1, CCDC50, COCH, COL11A2, DIAPH3, DFNA5, DIAPH1, EYA4, GJB2, GJB3, GJB6, KCNQ4, MIRN96, MYH14, MYH9, MYO1A, MYO6, MYO7A, POU4F3, SLC17A8, TECTA, TFCP2L3, TMC1, WFS1, HGF genes: sequencing, linkage analysis)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
WÜRZBURG

Accreditation
Diagnosis of sensorineural deafness (GJB2, GJB3, GJB6, STRC genes)
Universität Würzburg - Biozentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Accreditation
Diagnosis of syndromic genetic deafness (GJB2, GJB3 and GJB6 genes)
CHU de Bordeaux-GH Pellegrin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques, Array based techniques

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Diagnosis of autosomal recessive non syndromic sensorineural deafness type DFNB (CDH23, DFNB31, GJA1, GJB2, GJB3, GJB6, GPSM2, MYO7A, OTOF, PCDH15, SLC26A4, SLC26A5, TECTA genes: sequencing)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SWITZERLAND

Suisse Alémanique
ZÜRICH

Accreditation
Diagnosis of autosomal nonsyndromic sensorineural deafness (GJB2 and GJB6 genes)
Genetica AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Diagnosis of sensorineural deafness (GJA1, GJB2 and GJB6 genes)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Autosomal recessive nonsyndromic sensorineural deafness type DFNB (GJB2 and GJB6 genes)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Autosomal dominant nonsyndromic sensorineural deafness type DFNA (GJB2 and GJB6 genes)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Diagnosis of autosomal dominant non-syndromic sensorineural deafness type DFNA (GJB2, GJB3, GJB6, MYH9, TECTA, WFS1 genes)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Diagnosis of Clouston sydrome (GJB6 gene)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

AUSTRIA

STEIERMARK
GRAZ

Accreditation
Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Medizinische Universität Graz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation
Molecular diagnosis of Clouston syndrome (GJB6 gene)
Centrum Medische Genetica - UZA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Accreditation
Diagnosis of hidrotic ectodermal dysplasia (GJB6 gene)
CHU de Bordeaux-GH Pellegrin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of Autosomal Recessive Non-syndromic Hearing Loss (by GJB2 sequencing, GJB6 MLPA)
The Hospital for Sick Children and University of Toronto
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques, MLPA based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of recessive non syndromic genetic deafness DFNB (OTOF: Q829X mutation, GJB2, GJB6, STRC, OTOGL, SLC26A4 and LHFPL5 genes)
Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation
Diagnosis of sensorineural deafness (GJB2, GJB6, MYH9, SLC26A4 genes)
laboratoriumsmedizin köln - Dres. med. Wisplinghoff und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of autosomal dominant non syndromic sensorineural deafness (ACTG1, CCDC50, COCH, COL11A2, DFNA5, DIAPH1, EYA4, GJB2, GJB3, GJB6, GRHL2, KCNQ4, MIR96, MYH9, MYH14, MYO1A, MYO6, MYO7A, POU4F3, SIX1, SLC17A8, TECTA, TMC1, WFS1 genes)
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MARTINSRIED

Accreditation
Diagnosis of Clouston sydrome (GJB6 gene)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

CANADA

Manitoba
WINNIPEG

Accreditation
Molecular Diagnosis of GJB6-related Sensorineural Hearing Loss (GJB6 sequencing)
Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, PCR based techniques

CANADA

Manitoba
WINNIPEG

Accreditation
Molecular Diagnosis of Hidrotic Ectodermal Dysplasia 2 (GJB6 sequencing)
Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluńa
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of ectodermal dysplasia (gene panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Niedersachsen
HANNOVER

Accreditation
Diagnosis of autosomal recessive non syndromic sensorineural deafness type DFNB (CDH23, GJB2, GJB6, MYO7A, SLC26A4 genes)
Medizinische Hochschule Hannover
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of Hereditary Hearing Loss: Nonsyndromic/Common HL - NGS Panel (53 genes)
The Hospital for Sick Children and University of Toronto
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Array based techniques

GERMANY

Niedersachsen
HANNOVER

Accreditation
Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
amedes genetics im MVZ wagnerstibbe
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
KARLSRUHE

Accreditation
Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Labor PD Dr. Volkmann und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
BOULOGNE-BILLANCOURT

Accreditation
Diagnosis of autosomal non-syndromic sensorineural deafness (GJB2 and GJB6 genes)
CHU Paris IdF Ouest - Hôpital Ambroise Paré
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of Clouston sydrome (GJB6 gene)
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of skin diseases (Panel)
Hôpital Necker-Enfants Malades
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Uniparental disomy study, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques, Microsatellite analysis

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of deafness (Panel)
Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation
Diagnosis of deafness (Panel)
CHU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation
Diagnosis of deafness (Panel)
CHU de Marseille - Hôpital de la Timone
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation
Molecular diagnosis of Autosomal Recessive Non-Syndromic Deafness (GJB2, GJB6 and SLC26A4 gene)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, PCR based techniques

SPAIN

Cataluńa
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of autosomal recessive non-syndromic sensorineural deafness type DFNB (gene panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

FRANCE

BRETAGNE
BREST

Accreditation
Diagnosis of non-syndromic sensorineural deafness (Panel)
CHU de Brest - Hôpital de la Cavale Blanche
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

ESTONIA

Tartu
TARTU

Accreditation
Molecular diagnosis of sensorineural hearing loss (panel)
Asper Biogene
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Diagnosis of skin diseases (NGS screening panel, 253 genes)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of non-syndromic genetic deafness (Panel)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, Array based techniques

UNITED KINGDOM

West Yorkshire
LEEDS

Accreditation
Molecular diagnosis of DFNB1-caused Non-Syndromic Genetic Deafness (full GJB2 coding region sequencing, exon 1 splice site mutation analysis and GJB6 deletion analysis)
St James's University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

CZECH REPUBLIC

Plzen
PLZEN

Accreditation
Molecular diagnosis of non syndromic genetic deafness type DFNB1 (GJB2 and GJB6 genes)
Genetika Plzen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation
Diagnosis of autosomal dominant non syndromic genetic deafness (GJB2 and GJB6 genes)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques

GERMANY

Baden-Württemberg
SINGEN /HTWL.

Accreditation
Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Institut für Laboratoriumsmedizin und Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

PORTUGAL

NORTE
PORTO

Accreditation
Molecular diagnosis of non-syndromic sensorineural deafness (GJB2, GJB3, GJB6 and WFS1 genes: sequencing of entire coding region and delection analysis by MLPA)
Instituto de Biologia Molecular e Celular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : MLPA based techniques

PORTUGAL

NORTE
PORTO

Accreditation
Molecular diagnosis of non-syndromic congenital deafness (GJB6, SLC26A4, OTOF genes: Sequencing of entire coding region)
Instituto de Biologia Molecular e Celular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

CANADA

Ontario
LONDON

Accreditation
Molecular Diagnosis of Non-syndromic Genetic Deafness (GJB2, GJB6 NGS)
London Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

ITALY

LIGURIA
GENOVA

Molecular diagnosis of deafness due to connexin types (GJA1,GJB6,GJB2 genes)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of connexin 26 and 30 deafness (GJB6-D13S80)
Ospedale Maggiore Policlinico - Clinica Mangiagalli
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of nonsyndromic sensorineural deafness (GJB2, GJB6 genes)
Laboratorio Genoma
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
ERLANGEN

Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Humangenetisches Institut am Universitätsklinikum Erlangen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

SARDEGNA
CAGLIARI

Molecular diagnosis of non-syndromic deafness (GJA1, GJB2, GJB3, GJB6 and MT-RNR1 genes)
Ospedale Regionale per le Microcitemie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of connexines 26, 30 and 31 anomaly (GJB2, GJB3 and GJB6 genes)
Policlinico Universitario "A. Gemelli"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

VENETO
PADOVA

Diagnosis of non-syndromic genetic deafness [panel of genes]
Azienda Ospedaliera di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), PCR based techniques

ITALY

EMILIA ROMAGNA
FERRARA

Diagnosis of non syndromic deafness due to connexines 26 and 30 (GJB2, GJB 6 genes)
A.O.U. di Ferrara - Polo Chimico-Bio-Medico
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques

ITALY

TOSCANA
PISA

Diagnosis of non syndromic deafness due to connexin anomalies (GJB2, GJB6 genes)
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Bayern
REGENSBURG

Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
MVZ Dr. Staber & Kollegen GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

LOMBARDIA
VARESE

Molecular diagnosis of nonsyndromic sensorineural deafness (GJA1, GJB2, GJB3, GJB6, MIR96 genes)
A.O.U. Ospedale di Circolo e Fondazione Macchi - Universitŕ dell'Insubria
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES)

GERMANY

Niedersachsen
OSNABRÜCK

Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
BAD STEBEN

Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Institut für angewandte Humangenetik und Onkogenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
KÖLN

Diagnosis of sensorineural deafness (GJB2, GJB3 and GJB6 genes)
Zotz|Klimas Standort Köln
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GREECE

ATTIKI
ATHENS

Molecular diagnosis of connexin 26 and 30 anomalies (GJB2 and GJB6 genes)
Diagnostic Genetic Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

VENETO
COSTOZZA DI LONGARE

Diagnosis of non syndromic deafness due to connexines 26 and 30 anomaly (GJB2 and GJB6 genes)
B.I.R.D. Foundation
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques

GERMANY

Nordrhein-Westfalen
KÖLN

Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Institut für Humangenetik am Universitätsklinikum Köln
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

BASILICATA
MATERA

Postnatal molecular diagnosis of genetic nonsyndromic deafness (GJB2 and GJB6 genes)
Presidio Ospedaliero "Madonna delle Grazie" - Azienda Sanitaria di Matera (ASM)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

GERMANY

Nordrhein-Westfalen
MÜNSTER

Diagnosis of sensorineural deafness (GJB2, GJB3 and GJB6 genes)
Institut für Humangenetik des Universitätsklinikums Münster
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Diagnosis of autosomal dominant non syndromic sensorineural deafness (CCDC50, COCH , COL11A2, DIAPH1, DFNA5, EYA4, GJB2, GJB3, GJB6, HGF, KCNQ4, MYH9, MYH14, MYO6, MYO7A, POU4F3, SIX1, TECTA, TMC1, WFS1 genes)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Diagnosis of autosomal recessive non syndromic sensorineural deafness (CIB2, GJB2, GJB3, GJB6, HGF, MYO15A, MYO3A, MYO7A, OTOF, PCDH15, SLC26A4, STRC, TMC1, TMIE , TRIOBP, USH1C genes)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

DENMARK

Syddanmark
VEJLE

Molecular diagnosis of non syndromic genetic deafness (frequent deletions in GJB2 and GJB6 genes detected by MLPA)
Sygehus Lillebaelt Vejle Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Hamburg
HAMBURG

Diagnosis of Clouston sydrome (GJB6 gene)
UKE - Universitätsklinikum Hamburg-Eppendorf
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
NÜRNBERG

Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Madrid
MADRID

Diagnosis of deafness, autosomal dominant, nonsyndromic, sensorineural, type DFNA (MYH9, ACTG1, COL11A2, CCDC50, DFNA5, KCNQ4 , DIAPH1, EYA4, POU4F3, GJB2, GJB6, TMC1, MYH14, TECTA, WFS1, MIR96, COCH genes)
Hospital Universitario Ramón y Cajal
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Array based techniques

SPAIN

Madrid
MADRID

Diagnosis of d.eafness, autosomal recessive, nonsyndromic, sensorineural, type DFNB (ESRRB, OTOF, LHFPL5, MYO7A, PCDH15, DFNB59, MARVELD2, GJB2, GJB6, MYO15A, TMIE, TMC1, TMPRSS3, CDH23, USH1C, TECTA, TRIOBP genes)
Hospital Universitario Ramón y Cajal
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Array based techniques

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of hidrotic ectodermal dysplasia (GJB6 gene)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of autosomal recessive nonsyndromic sensorineural deafness type DFNB
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of autosomal dominant nonsyndromic sensorineural deafness type DFNA (GJB3, GJB2, GJB6, WFS1, COCH, COL11A2, MYH9, ACTG1, SIX1, TECTA genes: COHC gene / mutation P51S)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of Clouston syndrome (GJB6 gene)
Sistemas Genómicos S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of autosomal recessive nonsyndromic sensorineural deafness type DFNB (panel)
IMEGEN - Delegación Valencia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

GERMANY

Baden-Württemberg
ULM

Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
MVZ Humangenetik Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
STUTTGART

Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Klinikum Stuttgart - Standort Olgahospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Madrid
MADRID

Diagnosis of autosomal recessive nonsyndromic sensorineural deafness type DFNB (GJB2, GJB6, OTOF genes)
Hospital Universitario Fundación Jiménez Díaz
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of autosomal dominant nonsyndromic sensorineural deafness type DFNA (panel)
IMEGEN - Delegación Valencia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

GERMANY

Baden-Württemberg
STUTTGART

Diagnosis of sensorineural deafness (GJB6 gene: hotspot)
Praxis für Humangenetik und Prävention
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of nonsyndromic sensorineural deafness, type DFNB (GJB2, GJB6 genes; OTOF gene / exon 22, mutation Q829X)
Hospital Universitario y Politécnico La Fe
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques

GERMANY

Sachsen
DRESDEN

Diagnosis of sensorineural deafness (COL11A2, GJB2,GJB6, TECTA genes)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

LAZIO
ROMA

Antenatal and postnatal molecular diagnosis of nonsyndromic sensorineural deafness (targeted mutation analysis of GJB2, GJB6 genes)
ASLRM1 - Centro per la tutela della Salute della Donna e del Bambino
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

ITALY

CAMPANIA
NAPOLI

Diagnosis of sensorineural deafness (GJB2, GJB6 genes)
Biotecnologie Avanzate Srl
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
FREIBURG

Diagnosis of KID syndrome (GJB2, GJB6 genes)
Institut für Humangenetik am Universitätsklinikum Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of non-syndromic sensorineural deafness (GJB2, GJB6, MIR96 genes)
Igenomix Spain
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : PCR based techniques

AUSTRIA

WIEN
WIEN

Molecular diagnosis of non-syndromic sensorineural deafness (ACTG1, GJB2, GJB6, COCH, DIAPH1, EYA4, KCNQ4, MYH9, TMC1, and TECTA genes)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
FREIBURG

Diagnosis of sensorineural deafness (GJA1, GJB2 and GJB6 genes)
Institut für Humangenetik am Universitätsklinikum Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

SPAIN

La Rioja
LOGROŃO

Diagnosis of autosomal recessive non-syndromic sensorineural deafness type DFNB (GJB2, GJB6, OTOF genes)
Fundación Rioja Salud - Centro de Investigación Biomédica de La Rioja
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

La Rioja
LOGROŃO

Diagnosis of autosomal dominant non-syndromic sensorineural deafness type DFNA (GJB2, GJB6 genes)
Fundación Rioja Salud - Centro de Investigación Biomédica de La Rioja
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

POLAND

Warszawa
WARSAW

Molecular diagnosis of recessive non syndromic genetic deafness (GJB2 gene: 35delG, 310del14 and IVS1+1G>A as well as of the rare mutations in the coding region; frequent mutations in the GJB6 gene)
MEDGEN
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : PCR based techniques

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of hidrotic ectodermal dysplasia (GJB6 gene / entire coding sequence)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of autosomal dominant nonsyndromic sensorineural deafness type DFNA (GJB2, GJB6 genes / entire coding sequence)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

GERMANY

Nordrhein-Westfalen
MÜNSTER

Diagnosis of Clouston sydrome (GJB6 gene)
Institut für Humangenetik des Universitätsklinikums Münster
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

SICILIA
AVOLA

Diagnosis of connexin 26 and 30 deafness (GJB2, GJB6 genes)
Laboratori Campisi s.r.l.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

GERMANY

Hamburg
HAMBURG

Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
UKE - Universitätsklinikum Hamburg-Eppendorf
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Asturias
OVIEDO

Diagnosis of genetic deafness (panel)
IMOMA - Instituto de Medicina Oncológica y Molecular de Asturias
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

CANADA

Colombie-Britannique
VANCOUVER

Molecular Diagnosis of Non-Syndromic Sensorineural Hearing Loss (GJB2 sequencing, GJB6 targeted mutation analysis)
BC Women's Hospital and Health Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of hidrotic ectodermal dysplasia (GJB6 gene)
IMEGEN - Delegación Valencia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

CANADA

Alberta
EDMONTON

Molecular Diagnosis of Hereditary Nonsyndromic Deafness (GJB6 common deletions, GJB2 exon 2 sequencing)
University of Alberta
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques

CANADA

Alberta
EDMONTON

Molecular Diagnosis of Hidrotic Ectodermal Dysplasia 2 (GJB6 sequencing exon 3)
University of Alberta
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

ITALY

TRENTINO ALTO ADIGE
MATTARELLO

Molecular diagnosis of connexin-related non-sydromic deafness (GJB6 and GJB2 genes by PCR and agarose gel electrophoresis; sequencing of GJB2 gene)
Centro Interdipartimentale per la Biologia Integrata (CIBIO)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : PCR based techniques

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of ectodermal dysplasia syndrome (gene panel)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

ITALY

VENETO
LIMENA

Molecular diagnosis of non-syndromic sensorineural deafness associated to connexin 26 and 30 deafness (CX26 and CX30 genes)
RDI - RETE DIAGNOSTICA ITALIANA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
STUTTGART

Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Praxis für Humangenetik und Prävention
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

VENETO
PADOVA

Postnatal molecular diagnosis of hidrotic ectodermal dysplasia (sequence analysis of the entire coding region of EDA gene)
Azienda Ospedaliera di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

ITALY

VENETO
PADOVA

Postnatal molecular diagnosis of autosomal dominant non-syndromic sensorineural deafness type DFNA (determined by Sanger sequencing and NGS)
Azienda Ospedaliera di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

ITALY

VENETO
PADOVA

Postnatal molecular diagnosis of autosomal recessive non-syndromic sensorineural deafness type DFNB (determined by Sanger sequencing and NGS)
Azienda Ospedaliera di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

HUNGARY

Közép-Magyarország
BUDAPEST

Non-syndromic sensorineural hearing loss (GJB2 and GJB6 genes)
Institute of Genomic Medicine and Rare Disorders, Semmelweis University
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

POLAND

Warszawa
WARSAW

Deafness - Analysis of the del/dupl with MLPA for the GJB2, GJB3, GJB6, WFS1, POU3F4 genes
MEDGEN
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Hamburg
HAMBURG

Diagnosis of sensorineural deafness (NGS panel, 28 genes)
Gemeinschaftspraxis für Humangenetik GbR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

AUSTRIA

WIEN
WIEN

Molecular diagnosis of hidrotic ectodermal dysplasia (GJB6 gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Molecular diagnosis of KID syndrome (GJB2 and GJB6 genes)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

VENETO
PADOVA

Molecular diagnosis of rare cataract [panel of genes]
Research&Innovation S.r.l. (R&I Genetics)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Whole Exome Sequencing (WES)

SPAIN

Madrid
MADRID

Diagnosis of non-syndromic sensorineural deafness (panel)
Hospital Universitario Fundación Jiménez Díaz
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Madrid
MADRID

Diagnosis of syndromic genetic deafness (panel)
Hospital Universitario Fundación Jiménez Díaz
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluńa
ESPLUGUES DE LLOBREGAT

Diagnosis of recessive diseases (panel, qCarrier Plus)
qGenomics
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluńa
ESPLUGUES DE LLOBREGAT

Diagnosis of autosomal recessive non-syndromic sensorineural deafness type DFNB (GJB2, GJB6 genes)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s) : PCR based techniques, MLPA based techniques

SPAIN

Cataluńa
BARCELONA

Diagnosis of hereditary hearing loss (panel)
Hospital de la Santa Creu i Sant Pau
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

SPAIN

La Rioja
LOGROŃO

Diagnosis of non-syndromic sensorineural deafness (panel)
Hospital San Pedro
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluńa
ESPLUGUES DE LLOBREGAT

Diagnosis of ectodermal dysplasia syndrome (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

SPAIN

Madrid
MADRID

Diagnosis of autosomal recessive non-syndromic sensorineural deafness type DFNB (GJB2, GJB6 genes)
Hospital Clínico San Carlos
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

ITALY

EMILIA ROMAGNA
PARMA

Diagnosis of autosomal recessive non-syndromic sensorineural deafness type DFNB (GJB2, GJB6 genes)
Azienda Ospedaliero-Universitaria di Parma
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques

SPAIN

Cataluńa
ESPLUGUES DE LLOBREGAT

Diagnosis of congenital deafness (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of autosomal dominant non-syndromic sensorineural deafness type DFNA (panel)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of autosomal recessive non-syndromic sensorineural deafness type DFNB (panel)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Madrid
TRES CANTOS

Diagnosis of ectodermal dysplasia syndrome (panel)
Centro de estudios genéticos ATG Medical
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Hessen
FRANKFURT AM MAIN

Diagnosis of congenital cataract (NGS panel, 149 genes)
Senckenberg Zentrum für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Hessen
FRANKFURT AM MAIN

Diagnosis of autosomal recessive non syndromic sensorineural deafness (NGS panel, 73 genes)
Senckenberg Zentrum für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Hessen
FRANKFURT AM MAIN

Diagnosis of autosomal dominant non-syndromic sensorineural deafness (NGS panel, 42 genes)
Senckenberg Zentrum für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

SPAIN

Galicia
SANTIAGO DE COMPOSTELA

Diagnosis of autosomal recessive non-syndromic sensorineural deafness type DFNB (GJB2, GJB6 genes)
Complejo Hospitalario Universitario de Santiago
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques

SPAIN

Cataluńa
BARCELONA

Diagnosis of genetic deafness (panel)
Hospital Universitari Vall d'Hebron
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluńa
BARCELONA

Diagnosis of non-syndromic sensorineural deafness type DFNA and type DFNB (GJB2 and GJB6 genes)
Hospital Universitari Vall d'Hebron
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

FRIULI VENEZIA GIULIA
TRIESTE

Molecular diagnosis of connexin 26 and 30 deafness (GJB2, GJB6 genes)
IRCCS Burlo Garofolo - Istituto per l'Infanzia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Diagnosis of nonsyndromic deafness due to connexin anomalies 26, 30 and 31
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

EMILIA ROMAGNA
BOLOGNA

Molecular diagnosis of connexin 26 and 30 anomaly (GJB2 and GJB6 genes)
Policlinico S. Orsola-Malpighi - Area S. Orsola
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of non syndromic deafness due to connexin 26 anomaly (GJB2, GJB6 genes)
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of connexin 26 and 30 anomalies and genetic deafness (GJB2 and GJB6 genes)
ASST Grande Ospedale Metropolitano Niguarda
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

AUSTRIA

WIEN
WIEN

Molecular diagnosis of non-syndromic sensorineural deafness, types DFNA and DFNB (BSND, SIX1, MYO7A, MYH14, MYH9, SLC26A4, GJB2, and GJB6 genes)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Hystrix-like ichthyosis-deafness syndrome (GJB2 and GJB6 genes)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Molecular diagnosis of ectodermal dysplasia (WNT10A, IKBKG, EDA, NECTIN1, NECTIN4, NFKBIA, GJB6, EDAR, and EDARADD genes)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

PUGLIA
LECCE

Molecular diagnosis of connexines 26 and 30 anomalies
Presidio Ospedaliero "Vito Fazzi" - ASL LE
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GREECE

ATTIKI
ATHENS

Prenatal and postnatal molecular diagnosis of non-syndromic hearing impairement (GJB2 and GJB6 mutation screening)
Mitera General, Maternity and Children's Hospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons

PORTUGAL

NORTE
PORTO

Molecular diagnosis of deafness, nonsyndromic sensorineural recessive (GJB2, GJB3 and GJB6 genes: Analysis of the entire coding region - Sequence analysis)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

BULGARIA

 South-West region
SOFIA

Molecular diagnosis of nonsyndromic hereditary deafness due to connexin 26, 30, 31, 32 and 43 anomalies
GENICA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HAIFA

Molecular diagnosis of Deafness non-syndromic (GJB2, GJB6, Mutation analysis)
Carmel Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
REHOVOT

Molecular diagnosis of non-syndromic hearing loss (GJB2, GJB6, Mutation analysis, Carrier detection)
Kaplan Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
JERUSALEM

Molecular diagnosis of Deafness non-syndromic (GJB2, GJB6, Mutation analysis, PGD)
Hadassah Ein Kerem - Hebrew University Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
RAMAT GAN

Molecular diagnosis of DFNB1 non-syndromic hearing loss (GJB2, GJB6, Mutation analysis, Carrier detection, PGD)
Sheba Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
PETAH TIKVA

Molecular diagnosis of Non-syndromic hearing loss (GJB2, GJB6, Mutation analysis)
Rabin Medical Center - Beilinson Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
JERUSALEM

Molecular diagnosis of Deafness Non Syndromic (GJB2, GJB6, Mutation analysis, PGD)
Shaare Zedek Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Non-syndromic hearing loss (GJB2, GJB6, Mutation analysis)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
BRESCIA

Molecular diagnosis of non syndromic deafness due to connexines 26 and 30 (GJB2 and GJB6 genes)
Universitŕ degli Studi di Brescia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

POLAND

Warszawa
WARSAW

Molecular diagnosis of nonsyndromic genetic deafness (GJB2 and GJB6 genes)
Warszawski Uniwersytet Medyczny
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Nordrhein-Westfalen
BONN

Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Institut für Klinische Genetik Bonn
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

CAMPANIA
NAPOLI

Molecular diagnosis of nonsyndromic neurosensorial deafness (GJB2 and GJB6 genes)
AOU Universitŕ degli Studi della Campania "Luigi Vanvitelli"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

NORTE
PORTO

Molecular diagnosis of nonsyndromic hearing loss and deafness (GJB6 and GJB2 genes)
CGMJM - Centro de Genética Médica Jacinto Magalhăes
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Limburg
MAASTRICHT

Molecular diagnosis of Clouston Syndrome (GJB6 gene)
AZM - Academisch Ziekenhuis Maastricht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

SUL
LISBOA

Molecular diagnosis of autosomal nonsyndromic sensorineural deafness type DFNA and DFNB (GJB2 and GJB6 genes)
Faculdade de Medicina da Universidade de Lisboa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

EMILIA ROMAGNA
BOLOGNA

Molecular diagnosis of Clouston syndrome (GJB6 gene)
Policlinico S. Orsola-Malpighi - Area S. Orsola
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Molecular diagnosis of autosomal recessive nonsyndromic sensorineural deafness type DFNB (gene GJB2 - direct sequencing of exons 1 and 2 and MLPA; gene GJB6 - MLPA analysis)
Slovak Academy of Sciences
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

CANADA

Québec
MONTRÉAL

Molecular diagnosis of hidrotic ectodermal dysplasia (GJB6 gene / mutation p.G11R, p.V37E, p.D50N & p.A88V by sequencing)
Montreal Children's hospital - Hôpital de Montréal pour enfants
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CANADA

Québec
MONTRÉAL

Molecular diagnosis of non syndromic genetic deafness - Connexin 26 and 30 (GJB2 gene/sequencing, complete coding regions + GJB6 gene/mutation 309kb del(GJB6-D13S1830) + 232kb del(GJB6-D13S1854))
Montreal Children's hospital - Hôpital de Montréal pour enfants
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Castilla - León
SALAMANCA

Diagnosis of non-syndromic sensorineural deafness (GJB6 gene)
IBSAL - Instituto de Investigación Biomédica de Salamanca
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

CROATIA

CROATIA
ZAGREB

Molecular diagnosis of non syndromic genetic deafness type DFNB1 (sequencing/MLPA GJB2 and GJB6 genes)
Children's University Hospital Zagreb
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

CYPRUS

Cyprus
NICOSIA

Deletion analysis of deafness due to connexin 30 (GJB6 gene 13q12.11 / GJB6-D13S1830)
The Cyprus Institute of Neurology and Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

CYPRUS

Cyprus
NICOSIA

DNA storage/extraction of GJB2 and GJB6 for deafness due to connexin 26 and connexin 30 (GJB2 gene 13q12.11 and GJB6 gene 6p31.23)
The Cyprus Institute of Neurology and Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

HUNGARY

Dél-Alföld
SZEGED

Sensorineural non-syndromic deafness
University of Szeged Deparment of Medical Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing